The DOI matches its Crossref record; 162 of the 162 references it cites were found in a registry or an index.
Parkinsonism, movement disorders and genetics in frontotemporal dementia
Abstract
Frontotemporal dementia (FTD) refers to a group of clinically and genetically heterogeneous neurodegenerative disorders that are a common cause of adult-onset behavioural and cognitive impairment. FTD often presents in combination with various hyperkinetic or hypokinetic movement disorders, and evidence suggests that various genetic mutations underlie these different presentations. Here, we review the known syndromatic-genetic correlations in FTD. Although no direct genotype-phenotype correlations have been identified, mutations in multiple genes have been associated with various presentations. Mutations in the genes that encode microtubule-associated protein tau (MAPT) and progranulin (PGRN) can manifest as symmetrical parkinsonism, including the phenotypes of Richardson syndrome and corticobasal syndrome (CBS). Expansions in the C9orf72 gene are most frequently associated with familial FTD, typically combined with motor neuron disease, but other manifestations, such as symmetrical parkinsonism, CBS and multiple system atrophy-like presentations, have been described in patients with these mutations. Less common gene mutations, such as those in TARDBP, CHMP2B, VCP, FUS and TREM2, can also present as atypical parkinsonism. The most common hyperkinetic movement disorders in FTD are motor and vocal stereotypies, which have been observed in up to 78% of patients with autopsy-proven FTD. Other hyperkinetic movements, such as chorea, orofacial dyskinesias, myoclonus and dystonia, are also observed in some patients with FTD.
Overview
Integrity signals
Registry
Cites
Statistics
Verification
Claims the paper makes
Claims other papers make about this one
Each is checked against this paper’s own text: does it say what the citing paper says it does?
In the citing paper
“For instance, GRN and TMEM106B are reportedly potential genetic risk factors for differential aging in the cerebral cortex42 and cognitive impairment in amyotrophic lateral sclerosis43 and Parkinson’s disease44,45.”
From New insights into the genetic etiology of Alzheimer’s disease and related dementias (2022) · cites this paper as [44]
Citations
Cites
Amyloid oligomers exacerbate tau pathology in a mouse model of tauopathy
Selenica, M.-L. B., Brownlow, M., Jimenez, J. P., Lee, D. C., Pena, G., Dickey, C. A., Gordon, M. N., & Morgan, D. (2013) · Neurodegenerative Diseases · doi:10.1159/000337230 · Cited by 10,359
Sensitivity of revised diagnostic criteria for the behavioural variant of frontotemporal dementia
Rascovsky, K., Hodges, J. R., Knopman, D., Mendez, M. F., Kramer, J. H., Neuhaus, J., van Swieten, J. C., Seelaar, H., Dopper, E. G. P., Onyike, C. U., et al. (2011) · Brain · doi:10.1093/brain/awr179 · Cited by 5,221
Frontotemporal lobar degeneration: A consensus on clinical diagnostic criteria
Neary, D., Snowden, J. S., Gustafson, L., Passant, U., Stuss, D., Black, S., Freedman, M., Kertesz, A., Robert, P. H., Albert, M., et al. (1998) · Neurology · doi:10.1212/wnl.51.6.1546 · Cited by 5,047
A Hexanucleotide Repeat Expansion in C9ORF72 Is the Cause of Chromosome 9p21-Linked ALS-FTD
Renton, A. E., Majounie, E., Waite, A., Simón-Sánchez, J., Rollinson, S., Gibbs, J. R., Schymick, J. C., Laaksovirta, H., van Swieten, J. C., Myllykangas, L., et al. (2011) · Neuron · doi:10.1016/j.neuron.2011.09.010 · Cited by 4,409
Association of missense and 5′-splice-site mutations in tau with the inherited dementia FTDP-17
Hutton, M., Lendon, C. L., Rizzu, P., Baker, M., Froelich, S., Houlden, H., Pickering-Brown, S., Chakraverty, S., Isaacs, A., Grover, A., et al. (1998) · Nature · doi:10.1038/31508 · Cited by 3,498
TREM2 Variants in Alzheimer's Disease
Guerreiro, R., Wojtas, A., Bras, J., Carrasquillo, M., Rogaeva, E., Majounie, E., Cruchaga, C., Sassi, C., Kauwe, J. S. K., Younkin, S., et al. (2013) · New England Journal of Medicine · doi:10.1056/nejmoa1211851 · Cited by 3,020
Weıntraub, S. (1990) · Archives of Neurology · doi:10.1001/archneur.1990.00530120075013 · Cited by 3,018
Appelhof, B., Bakker, C., den IJssel, J. C. L. V. D., Zwijsen, S. A., Smalbrugge, M., Verhey, F. R. J., de Vugt, M. E., Zuidema, S. U., & Koopmans, R. T. C. M. (2017) · Dementia and Geriatric Cognitive Disorders · doi:10.1159/000477087 · Cited by 2,774
Mutations in progranulin cause tau-negative frontotemporal dementia linked to chromosome 17
Baker, M., Mackenzie, I. R., Pickering-Brown, S. M., Gass, J., Rademakers, R., Lindholm, C., Snowden, J., Adamson, J., Sadovnick, A. D., Rollinson, S., et al. (2006) · Nature · doi:10.1038/nature05016 · Cited by 2,058
Criteria for the diagnosis of corticobasal degeneration
Armstrong, M. J., Litvan, I., Lang, A. E., Bak, T. H., Bhatia, K. P., Borroni, B., Boxer, A. L., Dickson, D. W., Grossman, M., Hallett, M., et al. (2013) · Neurology · doi:10.1212/wnl.0b013e31827f0fd1 · Cited by 1,904
Cited by
Sorted by citations
Items 101–121 of 121
Clinical and pathological phenotypes in dementia
Rainero, I., Vacca, A., & Rubino, E. (2020) · Elsevier eBooks · doi:10.1016/b978-0-12-815854-8.00010-0 · Cited by 1
Sawyer, R. P., Shinagawa, S., & Miller, B. L. (2020) · Elsevier eBooks · doi:10.1016/b978-0-12-813866-3.00003-5 · Cited by 1
Amran, A. Y., Bukhbinder, A. S., & Schulz, P. E. (2022) · doi:10.1093/med/9780197574317.003.0018 · Cited by 1
Classic PD-Like Rest Tremor in FTDP-17 Due to a MAPT Mutation
Erro, R., Hirschbichler, S. T., & Bhatia, K. P. (2017) · Cambridge University Press eBooks · doi:10.1017/9781316145050.013
Frontotemporale Demenz: Welche Klassifikation ist sinnvoll?
Kukolja, J. (2018) · NeuroTransmitter · doi:10.1007/s15016-018-6475-9
Normal presynaptic dopaminergic neurons in corticobasal syndrome with MAPT gene mutation
Park, D. G., Yoon, J. H., & An, Y. (2020) · European Journal of Nuclear Medicine and Molecular Imaging · doi:10.1007/s00259-020-04949-x
Cartelli, D. (2021) · Elsevier eBooks · doi:10.1016/b978-0-12-818000-6.00006-8
Bhatia, K. P., Erro, R., & Stamelou, M. (2017) · Cambridge University Press eBooks · doi:10.1017/9781316145050.002
Rapidly Progressive ALS with Atypical Parkinsonism
Halani, H., Saini, P. K., Chavan, P., Mansukhani, K. A., & Khadilkar, S. V. (2022) · Annals of Indian Academy of Neurology · doi:10.4103/aian.aian_819_22
Criteri diagnostici delle degenerazioni corticobasali
Bénatru, I., & Colin, O. (2019) · EMC - Neurologia · doi:10.1016/s1634-7072(19)43055-9
Sawyer, R. P., Doran, S., & Miller, B. L. (2024) · Elsevier eBooks · doi:10.1016/b978-0-443-19176-3.00032-7
Physiological Changes Linked with Alzheimer’s Disease and Related Dementias
Payen, A., Bateman, J. R., Miller, D., Muralidhara, S. D., & Bennett, J. M. (2024) · Springer eBooks · doi:10.1007/978-3-031-32035-4_99-1
Jing, Y., Zhu, H., Yao, P., Chen, Y., Lai, X., He, Q., Yu, L., Lin, Y., & Kang, D. (2025) · Journal of Neurochemistry · doi:10.1111/jnc.70067 · Cited by 1
Criteri diagnostici delle degenerazioni corticobasali
Bénatru, I., & Colin, O. (2025) · EMC - Neurologia · doi:10.1016/s1634-7072(25)50692-x
Physiological Changes Linked with Alzheimer’s Disease and Related Dementias
Payen, A., Bateman, J. R., Miller, D., Muralidhara, S. D., & Bennett, J. M. (2025) · Springer eBooks · doi:10.1007/978-3-031-73368-0_99
Pathogenic or Likely Pathogenic GRN Variants Are Found in 0.1% of Parkinson's Disease Patients
Ganoza, C. A., Westenberger, A., Paul, J. J., Curado, F., Rennecke, J., Mannepalli, S., Zonic, E., Saravanakumar, D., Paknia, O., Al‐Ali, R., et al. (2025) · Movement Disorders · doi:10.1002/mds.70161
Román, K. D., Cristalli, C. A. A., Surace, E. I., Mezmezian, M. B., Levy, A., Lovera, A. B., Turizo, C. R. C., Sorbara, M., y Rojas, M. M. E., Graviotto, H. G., et al. (2026) · Brain Pathology · doi:10.1111/bpa.70057
Secondary tics: Etiology, presentation, and management
Baizabal‐Carvallo, J. F., & Jankovic, J. J. (2026) · Handbook of clinical neurology · doi:10.1016/b978-0-443-13554-5.00010-9
Self-citationQueiroz, E. D. M., Couto, C. M., Ferreira, A. D. L. R., de Souza, L. C., & Caramelli, P. (2026) · Neuroepidemiology · doi:10.1159/000552730
Neurodegenerative diseases and myoclonus
Grippe, T. C., Falletti, M., Suppa, A., & Chen, R. (2026) · International review of movement disorders · doi:10.1016/bs.irmvd.2026.06.002
Fangyu, Y., & Shuangquan, K. (2026) · Kidney Medicine · doi:10.1016/j.xkme.2026.101472
Metadata
- Authors
- Baizabal-Carvallo, J. F., & Jankovic, J.
- Affiliations
- Baylor College of Medicine (US)
- Corresponding author
- Jankovic, Joseph
- ORCID
- Jankovic, Joseph
- Venue
- Nature Reviews Neurology
- Published
- 2016-02-19
- Volume
- 12
- Issue
- 3
- Pages
- 175-185
- ISSN
- 1759-4758 (ISSN-L)
- 1759-4766
- OpenAlex
- W2275046571
- Cited by
- 121
- References
- 162
- Citations by year
- 2026: 7 · 2025: 9 · 2024: 5 · 2023: 7 · 2022: 16 · 2021: 15 · 2020: 15 · 2019: 13 · 2018: 11 · 2017: 16 · 2016: 7
- FWCI
- 2.18
- Type
- journal article
- Language
- en
- Open access
- closed
- Licence
- www.springer.com/tdm (tdm)
- Locations
- Nature Reviews Neurology (publishedVersion)
- PubMed (publishedVersion)
- Topics
- Health Sciences › Medicine › Clinical Neurology › Amyotrophic Lateral Sclerosis Research
- Health Sciences › Medicine › Psychiatry and Mental health › Dementia and Cognitive Impairment Research
- Health Sciences › Medicine › Clinical Neurology › Parkinson's Disease Mechanisms and Treatments
- Keywords
- frontotemporal dementia, parkinsonism, movement disorders, genetic mutations, C9orf72, progranulin, MAPT, tau protein, corticobasal syndrome, Richardson syndrome, multiple system atrophy, hyperkinetic movement disorders, stereotypy, chorea, dystonia, myoclonus, orofacial dyskinesia, genotype-phenotype correlation, neurodegeneration
- MeSH terms
- Animals, Atrophy, Brain, Humans, Movement Disorders, Parkinsonian Disorders, Frontotemporal Dementia
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
Are you an author, or do you see a problem with this page? Request a review
